ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PDHA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
571 | 791 | |
RPS6KA3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
438 | 623 | |
BCLAF3 | - | - | - |
GRCh38 GRCh37 |
5 | 181 |
EIF1AX | - | - |
GRCh38 GRCh37 |
5 | 176 | |
MAP3K15 | - | - |
GRCh38 GRCh37 |
132 | 352 | |
MAP7D2 | - | - | - |
GRCh38 GRCh37 |
65 | 237 |
SH3KBP1 | - | - |
GRCh38 GRCh37 |
277 | 459 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291960.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2022